Incidental Mutation 'R2351:Opn3'
ID 246094
Institutional Source Beutler Lab
Gene Symbol Opn3
Ensembl Gene ENSMUSG00000026525
Gene Name opsin 3
Synonyms panopsin, ERO, Ecpn, encephalopsin
MMRRC Submission 040333-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2351 (G1)
Quality Score 114
Status Not validated
Chromosome 1
Chromosomal Location 175489987-175520198 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 175520077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 9 (D9G)
Ref Sequence ENSEMBL: ENSMUSP00000148253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027809] [ENSMUST00000104984] [ENSMUST00000209720] [ENSMUST00000210367] [ENSMUST00000211207] [ENSMUST00000211489]
AlphaFold Q9WUK7
Predicted Effect probably benign
Transcript: ENSMUST00000027809
AA Change: D9G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027809
Gene: ENSMUSG00000026525
AA Change: D9G

DomainStartEndE-ValueType
low complexity region 16 26 N/A INTRINSIC
Pfam:7tm_1 56 307 4.7e-36 PFAM
low complexity region 314 331 N/A INTRINSIC
low complexity region 363 375 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000104984
SMART Domains Protein: ENSMUSP00000100600
Gene: ENSMUSG00000078185

DomainStartEndE-ValueType
Pfam:GDI 5 106 3.1e-14 PFAM
Pfam:GDI 200 534 1e-49 PFAM
low complexity region 598 618 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209720
AA Change: D9G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000210367
Predicted Effect probably benign
Transcript: ENSMUST00000211207
Predicted Effect unknown
Transcript: ENSMUST00000211489
AA Change: D9G
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. In addition to the visual opsins, mammals possess several photoreceptive non-visual opsins that are expressed in extraocular tissues. This gene, opsin 3, is strongly expressed in brain and testis and weakly expressed in liver, placenta, heart, lung, skeletal muscle, kidney, and pancreas. The gene may also be expressed in the retina. The protein has the canonical features of a photoreceptive opsin protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice exhibit normal photoentrainment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik A T 1: 138,779,846 (GRCm39) Y135* probably null Het
Aadacl4fm1 A T 4: 144,255,348 (GRCm39) Y256F probably damaging Het
Acad10 A T 5: 121,767,990 (GRCm39) I820K probably benign Het
Arl8b A T 6: 108,798,484 (GRCm39) I178F possibly damaging Het
Asap1 A T 15: 64,007,653 (GRCm39) probably null Het
Atp2b2 A T 6: 113,766,718 (GRCm39) I552N possibly damaging Het
C130074G19Rik G T 1: 184,615,060 (GRCm39) D43E probably benign Het
Ccdc162 C A 10: 41,431,968 (GRCm39) probably null Het
Ccdc186 T G 19: 56,787,129 (GRCm39) K613T possibly damaging Het
Cggbp1 T A 16: 64,676,046 (GRCm39) D37E possibly damaging Het
Cntn3 A T 6: 102,314,344 (GRCm39) N123K possibly damaging Het
Col18a1 C T 10: 76,948,538 (GRCm39) G325S probably benign Het
Cwc25 G T 11: 97,638,218 (GRCm39) T405K probably damaging Het
Cyp4a31 T C 4: 115,428,510 (GRCm39) V370A possibly damaging Het
Cyp4f13 T G 17: 33,144,570 (GRCm39) I309L probably benign Het
Dap3 A T 3: 88,840,870 (GRCm39) probably null Het
Dchs1 G T 7: 105,403,301 (GRCm39) D3080E probably benign Het
Ern2 A G 7: 121,770,731 (GRCm39) V762A probably damaging Het
Fgr C T 4: 132,724,548 (GRCm39) R255C probably damaging Het
Gcm2 A T 13: 41,257,094 (GRCm39) D218E probably benign Het
Gfi1 A G 5: 107,869,640 (GRCm39) S131P probably damaging Het
Grm8 A T 6: 28,126,118 (GRCm39) C3S possibly damaging Het
Gucy2d A G 7: 98,113,226 (GRCm39) D840G probably benign Het
H3f3a T C 1: 180,637,723 (GRCm39) T81A probably benign Het
Igsf23 C T 7: 19,678,723 (GRCm39) W22* probably null Het
Il12rb2 G A 6: 67,338,928 (GRCm39) Q3* probably null Het
Ino80d A T 1: 63,124,994 (GRCm39) L156H probably benign Het
Kdm2a G A 19: 4,379,154 (GRCm39) P554S probably benign Het
Lefty1 T A 1: 180,764,807 (GRCm39) L244H possibly damaging Het
Mdn1 T A 4: 32,750,010 (GRCm39) S4398T probably benign Het
Myh10 A G 11: 68,683,965 (GRCm39) D1126G probably damaging Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Myom1 A T 17: 71,341,574 (GRCm39) D111V probably damaging Het
Naip6 T A 13: 100,420,169 (GRCm39) D1367V probably damaging Het
Nbeal1 A T 1: 60,276,257 (GRCm39) H666L possibly damaging Het
Nsmaf T A 4: 6,437,921 (GRCm39) I77F probably damaging Het
Nvl T C 1: 180,958,357 (GRCm39) T231A probably benign Het
Obscn T C 11: 59,003,438 (GRCm39) R1287G probably damaging Het
Or4a81 T C 2: 89,619,522 (GRCm39) Y58C probably damaging Het
Or4c114 C T 2: 88,904,743 (GRCm39) G231S possibly damaging Het
Or6a2 A T 7: 106,600,883 (GRCm39) Y61* probably null Het
Or6c8b A G 10: 128,882,797 (GRCm39) V45A probably benign Het
Or6k2 T A 1: 173,986,486 (GRCm39) V49D probably damaging Het
Or8k24 C T 2: 86,216,471 (GRCm39) C97Y probably damaging Het
Parp10 A T 15: 76,127,056 (GRCm39) S101R probably benign Het
Pdhx T A 2: 102,854,562 (GRCm39) K399* probably null Het
Pdia4 A T 6: 47,773,848 (GRCm39) probably null Het
Pla2g4f T C 2: 120,130,923 (GRCm39) D844G probably benign Het
Prtg C A 9: 72,764,106 (GRCm39) D526E probably damaging Het
Rassf6 T C 5: 90,779,418 (GRCm39) D5G probably benign Het
Riok3 C T 18: 12,282,724 (GRCm39) Q388* probably null Het
Robo4 T A 9: 37,322,956 (GRCm39) F825L probably benign Het
Rpl13a-ps1 C T 19: 50,018,868 (GRCm39) E103K probably benign Het
Rpl18a A T 8: 71,348,864 (GRCm39) H37Q probably benign Het
Ryr1 A T 7: 28,774,718 (GRCm39) S2301T probably benign Het
Slc39a9 T A 12: 80,691,660 (GRCm39) D2E possibly damaging Het
Slco5a1 C T 1: 13,060,158 (GRCm39) V188I probably benign Het
Son T A 16: 91,454,547 (GRCm39) M1098K probably damaging Het
Spag9 A G 11: 93,983,726 (GRCm39) D701G probably damaging Het
Ssmem1 T C 6: 30,512,495 (GRCm39) F46S possibly damaging Het
Sspo C T 6: 48,441,803 (GRCm39) R1938W probably damaging Het
Sstr3 T C 15: 78,424,121 (GRCm39) I209V probably benign Het
Tlk2 A G 11: 105,100,656 (GRCm39) Y87C probably damaging Het
Traf4 G A 11: 78,051,002 (GRCm39) R385W probably damaging Het
Triobp G A 15: 78,888,780 (GRCm39) V1962M probably benign Het
Tspan12 T G 6: 21,835,506 (GRCm39) I56L probably benign Het
Upp2 T A 2: 58,653,674 (GRCm39) probably null Het
Vps13b T C 15: 35,869,457 (GRCm39) W2654R probably damaging Het
Zc3h18 C T 8: 123,129,926 (GRCm39) R435* probably null Het
Zfta T C 19: 7,399,609 (GRCm39) I247T probably damaging Het
Other mutations in Opn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0349:Opn3 UTSW 1 175,519,870 (GRCm39) missense probably damaging 1.00
R0377:Opn3 UTSW 1 175,491,260 (GRCm39) missense probably damaging 1.00
R2040:Opn3 UTSW 1 175,491,145 (GRCm39) missense possibly damaging 0.73
R4868:Opn3 UTSW 1 175,491,127 (GRCm39) missense probably damaging 1.00
R5561:Opn3 UTSW 1 175,493,153 (GRCm39) missense probably damaging 1.00
R6232:Opn3 UTSW 1 175,490,669 (GRCm39) missense probably damaging 0.99
R6848:Opn3 UTSW 1 175,490,615 (GRCm39) missense probably damaging 1.00
R7275:Opn3 UTSW 1 175,493,039 (GRCm39) missense probably damaging 1.00
R7522:Opn3 UTSW 1 175,493,189 (GRCm39) missense probably benign 0.08
R7774:Opn3 UTSW 1 175,490,471 (GRCm39) missense probably damaging 0.99
R8081:Opn3 UTSW 1 175,493,135 (GRCm39) missense probably damaging 0.96
R9205:Opn3 UTSW 1 175,490,655 (GRCm39) missense probably benign 0.05
Z1177:Opn3 UTSW 1 175,520,229 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- CTTGGAGTAGAGAAGCAGCACC -3'
(R):5'- CTGCAAGTGCTAGCTAGTGG -3'

Sequencing Primer
(F):5'- TAGAGAAGCAGCACCAGCAG -3'
(R):5'- CAAGTGCTAGCTAGTGGGGCTC -3'
Posted On 2014-10-30